DIAGNOSIS OF X-ADRENOLEUKODYSTROPHY PHENOTYPIC VARIANTS

We report the radiological and biochemical data of a familial X-adreno leucodystrophy with an extreme phenotypic variability, in which the di agnosis of several affected members was delayed for several years. The propositus developed a progressive dementia, while two of his brother s were diagnosed of primary Addison's disease several years previously . MRI in two cases with different phenotypes revealed hyperintense dif fuse white matter lesions, and the diagnosis was confirmed by increase d serum levels of very long chain fatty acids. We conclude that X-adre noleucodystrophy should be included in the differential diagnosis of a dult Addison's disease even though no neurological involvement or fami ly history is recorded, and that MRI is a useful tool for diagnosis an d follow-up of neurological involvement in this disease.